DONNA MUZNY to Genotype
This is a "connection" page, showing publications DONNA MUZNY has written about Genotype.
Connection Strength
0.711
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Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 Mar 03; 17(1):62.
Score: 0.138
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Challenges of Francisella classification exemplified by an atypical clinical isolate. Diagn Microbiol Infect Dis. 2018 Apr; 90(4):241-247.
Score: 0.090
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Complete genomic characterization of global pathogens respiratory syntical virus and human norovirus using probe based capture enrichment. Sci Rep. 2025 Jul 01; 15(1):20526.
Score: 0.038
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Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. Genet Med. 2022 05; 24(5):1062-1072.
Score: 0.030
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Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 04 12; 12(1):2182.
Score: 0.028
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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 12 02; 216(12):2778-2799.
Score: 0.026
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.023
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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 04; 176(4):1015-1022.
Score: 0.023
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Whole exome sequencing in the Framingham Heart Study identifies rare variation in HYAL2 that influences platelet aggregation. Thromb Haemost. 2017 06 02; 117(6):1083-1092.
Score: 0.021
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Two male sibs with severe micrognathia and a missense variant in MED12. Eur J Med Genet. 2016 Aug; 59(8):367-72.
Score: 0.020
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Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 08; 170(8):2181-5.
Score: 0.020
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An integrated map of structural variation in 2,504 human genomes. Nature. 2015 Oct 01; 526(7571):75-81.
Score: 0.019
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Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med. 2014 Nov 27; 371(22):2072-82.
Score: 0.018
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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 Mar; 23(3):342-6.
Score: 0.018
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Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines. Genome Res. 2014 Jul; 24(7):1193-208.
Score: 0.017
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The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera. Leukemia. 2014 Apr; 28(4):938-41.
Score: 0.017
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NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 06; 94(2):303-9.
Score: 0.017
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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
Score: 0.017
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Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nat Genet. 2013 Jul; 45(7):767-75.
Score: 0.016
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CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression. Mol Psychiatry. 2013 Jun; 18(6):700-7.
Score: 0.016
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Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 May; 83(5):457-461.
Score: 0.016
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Deep resequencing and association analysis of schizophrenia candidate genes. Mol Psychiatry. 2013 Feb; 18(2):138-40.
Score: 0.015
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The Drosophila melanogaster Genetic Reference Panel. Nature. 2012 Feb 08; 482(7384):173-8.
Score: 0.015
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The functional spectrum of low-frequency coding variation. Genome Biol. 2011 Sep 14; 12(9):R84.
Score: 0.015
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010 Apr 01; 362(13):1181-91.
Score: 0.013
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Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med. 2008 Nov 24; 205(12):2711-6.
Score: 0.012
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The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 Apr 17; 452(7189):872-6.
Score: 0.012